Revel Score:
ENST00000262464 (MANE Select)
0.326
ENST00000508053
0.326
ENST00000507835
0.326
ENST00000508989
0.326
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335464A>T , CM000667.2:g.128335464A>T | GRCh38 |
| NC_000005.9:g.127671156A>T , CM000667.1:g.127671156A>T | GRCh37 |
| NC_000005.8:g.127699055A>T | NCBI36 |
| NG_008750.1:g.207580T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.622T>A | ||
| ENST00000703785.1:n.703T>A | ||
| ENST00000262464.9:c.3838T>A MANE Select | ENSP00000262464.4:p.Ser1280Thr | |
| ENST00000262464.8:c.3838T>A | ENSP00000262464.4:p.Ser1280Thr | |
| ENST00000507835.5:c.388T>A | ENSP00000426839.1:p.Ser130Thr | |
| ENST00000508053.5:c.3838T>A | ENSP00000424571.1:p.Ser1280Thr | |
| ENST00000508989.5:c.3739T>A | ENSP00000425596.1:p.Ser1247Thr | |
| ENST00000619499.4:c.3835T>A | ENSP00000482132.1:p.Ser1279Thr | |
| NM_001999.3:c.3838T>A | NP_001990.2:p.Ser1280Thr | |
| XM_017009228.2:c.3685T>A | XP_016864717.1:p.Ser1229Thr | |
| NM_001999.4:c.3838T>A MANE Select | NP_001990.2:p.Ser1280Thr |